rs2239731
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The ENST00000278319.10(ZNF215):āc.780A>Cā(p.Gly260=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000658 in 151,944 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
ENST00000278319.10 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ZNF215 | NM_013250.4 | c.780A>C | p.Gly260= | synonymous_variant | 7/7 | ENST00000278319.10 | NP_037382.2 | |
LOC102724711 | XR_002957236.2 | n.1997T>G | non_coding_transcript_exon_variant | 3/3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ZNF215 | ENST00000278319.10 | c.780A>C | p.Gly260= | synonymous_variant | 7/7 | 1 | NM_013250.4 | ENSP00000278319 | P1 |
Frequencies
GnomAD3 genomes AF: 0.00000658 AC: 1AN: 151944Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000813 AC: 2AN: 245972Hom.: 0 AF XY: 0.0000151 AC XY: 2AN XY: 132768
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.00000137 AC: 2AN: 1456644Hom.: 0 Cov.: 54 AF XY: 0.00000276 AC XY: 2AN XY: 724340
GnomAD4 genome AF: 0.00000658 AC: 1AN: 151944Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74186
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at